Zobrazeno 1 - 10
of 318
pro vyhledávání: '"Denise Horn"'
Autor:
Lena‐Luise Becker, Konstantin L. Makridis, Angela T. Abad‐Perez, Ulrich‐Wilhelm Thomale, Anna Tietze, Christian E. Elger, Denise Horn, Angela M. Kaindl
Publikováno v:
Epilepsia Open, Vol 9, Iss 2, Pp 800-807 (2024)
Abstract Genetic variants in relevant genes coexisting with MRI lesions in children with drug‐resistant epilepsy (DRE) can negatively influence epilepsy surgery outcomes. Still, presurgical evaluation does not include genetic diagnostics routinely.
Externí odkaz:
https://doaj.org/article/dd9e53ab3bb1429f9267b4b91901b431
Autor:
Alisa Maria Vittoria Reiter, Jean Tori Pantel, Magdalena Danyel, Denise Horn, Claus-Eric Ott, Martin Atta Mensah
Publikováno v:
Journal of Medical Internet Research, Vol 26, p e42904 (2024)
BackgroundWhile characteristic facial features provide important clues for finding the correct diagnosis in genetic syndromes, valid assessment can be challenging. The next-generation phenotyping algorithm DeepGestalt analyzes patient images and prov
Externí odkaz:
https://doaj.org/article/8a9ef5965b20493eb0badd415f05f0e5
Autor:
Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
Here the authors characterize structural variations (SVs) in a cohort of individuals with complex genomic rearrangements, identifying breakpoints by employing short- and long-read genome sequencing and investigate their impact on gene expression and
Externí odkaz:
https://doaj.org/article/dc4bcc3fd9a94543a5c2f94cf91155fd
Autor:
Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens
Publikováno v:
eLife, Vol 12 (2023)
TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in TRPM3 were identified in individuals with developmental and epileptic ence
Externí odkaz:
https://doaj.org/article/40dfdc180e96470192bccc762e052743
Autor:
Christiane K. Bauer, Tess Holling, Denise Horn, Mário Nôro Laço, Ebtesam Abdalla, Omneya Magdy Omar, Malik Alawi, Kerstin Kutsche
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 17, p 9690 (2022)
Dominant KCNQ1 variants are well-known for underlying cardiac arrhythmia syndromes. The two heterozygous KCNQ1 missense variants, R116L and P369L, cause an allelic disorder characterized by pituitary hormone deficiency and maternally inherited gingiv
Externí odkaz:
https://doaj.org/article/dd070170add34d3f98618f3c6e399594
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Background Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. Dent disease, chara
Externí odkaz:
https://doaj.org/article/0ada96be22564bc4ad05f544d8bbdb8e
Autor:
Jan Schölzchen, Christoph Treese, Peter Thuss-Patience, Alicja Mrózek, Beate Rau, Hendrik Seeliger, Dirk Hartmann, Lope Estevéz-Schwarz, Britta Siegmund, Denise Horn, Mani Nassir, Severin Daum
Publikováno v:
Cancers, Vol 14, Iss 15, p 3590 (2022)
Objectives: Current prospective studies investigating the frequency of hereditary criteria in a Caucasian population for adenocarcinoma of the esophagogastric junction (AEG) and stomach (GC) are missing. Genetic testing criteria (screening criteria)
Externí odkaz:
https://doaj.org/article/5328fc6df42a4ad6a619b614f1ea02ea
Autor:
Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-17 (2018)
Genetic variants in ACTB and ACTG1 have been associated with Baraitser-Winter Cerebrofrontofacial syndrome. Here, the authors report of a syndromic thrombocytopenia caused by variants in ACTB exons 5 or 6 that compromise the organization and coupling
Externí odkaz:
https://doaj.org/article/569cb18d81a94fddbe69e1080068e13d
Autor:
Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M. Krawitz
Publikováno v:
Genome Medicine, Vol 10, Iss 1, Pp 1-13 (2018)
Abstract Background Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresp
Externí odkaz:
https://doaj.org/article/65a240001c28434ca259e07e806334ff
Autor:
Jan R. Dörr, Anne Thorwarth, Agnieszka Mizia-Malarz, Josefine Radke, Anna Tietze, Pablo Hernáiz-Driever, Denise Horn, Alexander Gratopp, Angelika Eggert, Hedwig E. Deubzer
Publikováno v:
Children, Vol 8, Iss 6, p 469 (2021)
We here report the case of a 2-year-old patient with a primary central nervous system lymphoma of B-cell origin. Due to their past medical history of repeated respiratory tract infections and the marked chemotherapy-associated toxicity and infectious
Externí odkaz:
https://doaj.org/article/f0982dc5966a42159874bf1c22ec4a61